ID   GM29205
AC   CVCL_F0YK
DR   Coriell; GM29205
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:11603; TBX4; Simple; p.Phe97Leu (c.291C>G); Zygosity=Heterozygous (Coriell=GM29205).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C222354; Ischiocoxopodopatellar syndrome
DI   ORDO; Orphanet_1509; Coxopodopatellar syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   57Y
CA   Transformed cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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